{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA444488542",
  "communityStandardTitle": [
    "NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3108749[alleleid]",
        "alleleId": 3108749,
        "preferredName": "NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2948385",
        "RCV": [
          "RCV003807207"
        ],
        "variationId": 2948385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.67588106A>C?assembly=hg19",
        "id": "chr5:g.67588106A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2530990187",
        "rs": 2530990187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 68292278,
          "referenceAllele": "A",
          "start": 68292277
        }
      ],
      "hgvs": [
        "NC_000005.10:g.68292278A>C",
        "CM000667.2:g.68292278A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 67588106,
          "referenceAllele": "A",
          "start": 67588105
        }
      ],
      "hgvs": [
        "NC_000005.9:g.67588106A>C",
        "CM000667.1:g.67588106A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 67623862,
          "referenceAllele": "A",
          "start": 67623861
        }
      ],
      "hgvs": [
        "NC_000005.8:g.67623862A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81523,
          "referenceAllele": "A",
          "start": 81522
        }
      ],
      "hgvs": [
        "NG_012849.2:g.81523A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "referenceAllele": "A",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000320694.13:c.36A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323512.8:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000336483.10:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338554.5:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2561,
          "referenceAllele": "A",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517643.2:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513333.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 822,
          "referenceAllele": "A",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517698.6:c.107-823A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430424.1:n.107-823A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1523,
          "referenceAllele": "A",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521657.6:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429277.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "A",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000522084.6:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429766.2:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "referenceAllele": "A",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697457.1:c.861A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513315.1:p.Pro287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2306,
          "referenceAllele": "A",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697458.1:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513316.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "A",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697460.1:c.411A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513318.1:p.Pro137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "A",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697461.1:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513319.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697462.1:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513320.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "A",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697464.1:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513322.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "A",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697465.1:c.-28A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513323.1:n.-28A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "referenceAllele": "A",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697466.1:c.-53A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513324.1:n.-53A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "referenceAllele": "A",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000697556.1:c.843A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513334.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521381.6:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428056.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000521381.6:c.936A>C"
          },
          "RefSeq": {
            "hgvs": "NM_181523.3:c.936A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428056.1:p.Pro312="
          },
          "RefSeq": {
            "hgvs": "NP_852664.1:p.Pro312="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "A",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000320694.12:c.36A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323512.8:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000336483.9:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338554.5:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 822,
          "referenceAllele": "A",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000517698.5:c.107-823A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430424.1:n.107-823A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000518292.1:n.183A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "A",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000518813.5:n.1479A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "A",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521381.5:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428056.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 822,
          "referenceAllele": "A",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521409.5:c.-70-823A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431058.1:n.-70-823A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000521657.5:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429277.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "referenceAllele": "A",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000522084.5:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429766.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "ENST00000523807.5:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430126.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393375",
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181504.3:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852556.2:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830396493",
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181523.2:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852664.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830396981",
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181524.1:c.36A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852665.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1514,
          "referenceAllele": "A",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_005248542.2:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248599.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_011543493.1:c.609A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541795.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "referenceAllele": "A",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_005248542.3:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248599.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "A",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_011543493.3:c.609A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541795.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_017009585.2:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865074.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "A",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "XM_017009586.1:c.663A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865075.1:p.Pro221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830396493",
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181523.3:c.936A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852664.1:p.Pro312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000521381.6:c.936A>C"
          },
          "RefSeq": {
            "hgvs": "NM_181523.3:c.936A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428056.1:p.Pro312="
          },
          "RefSeq": {
            "hgvs": "NP_852664.1:p.Pro312="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393375",
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "A",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181504.4:c.126A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852556.2:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830396981",
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NM_181524.2:c.36A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852665.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700966"
    }
  ],
  "type": "nucleotide"
}